Shenzhen Institute of Pediatrics (Shenzhen Children’s Hospital)

General information

Shenzhen Institute of Pediatrics
Shenzhen Children’s Hospital

Organization ID: 504869

Personnel

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 91

Gene

GeneSubmissionsLast Updated
AAAS1Apr 26, 2017
ABCD11Dec 19, 2017
ACAN1Oct 19, 2017
ACAT11Jul 18, 2016
ADAMTS101Nov 22, 2016
ANOS14Apr 27, 2017
AR1Nov 8, 2016
BBS71Dec 27, 2016
BBS91Sep 13, 2016
CASK1Aug 21, 2017
CBX21Jan 3, 2017
CHD72Jul 4, 2017
COL18A12Mar 21, 2017
COL1A11Dec 25, 2017
COL1A21Jul 26, 2018
COMP2Sep 25, 2017
CPLANE11Jan 3, 2017
CREBBP1Nov 12, 2016
CYP11A12Mar 30, 2017
CYP21A22Jan 27, 2017
CYP27B11Oct 24, 2016
DHH1Sep 13, 2016
DMRT11Feb 28, 2017
FGFR11Dec 25, 2017
FOXP31Nov 8, 2016
GCDH1Jun 7, 2016
GCK1Jun 7, 2016
GLI21Oct 18, 2017
HLCS1Jun 18, 2017
HSD17B101Aug 9, 2016
KCNJ111Dec 20, 2017
KMT2A1Sep 26, 2017
KMT2D4Sep 24, 2017
LOC1067808002Jan 27, 2017
MAMLD11Aug 8, 2017
MAP3K11Nov 8, 2016
NBAS2Jul 12, 2017
NDUFS31Nov 23, 2016
NF11Apr 19, 2018
NR0B11Apr 5, 2017
NR5A11Oct 11, 2016
OTC2Jun 7, 2016
PCCB1Feb 24, 2014
PHF61Jan 3, 2017
POLG1Nov 8, 2016
PROKR21Oct 11, 2016
PRRT21Apr 17, 2018
RAI11Jan 3, 2017
RYR11Sep 24, 2017
SACS2Apr 17, 2018
SLC12A31Oct 11, 2016
SLC22A52May 26, 2016
SLC25A136Jul 18, 2016
SLC2A22Oct 18, 2017
SLC34A11Aug 21, 2017
SMAD41Sep 24, 2017
SNHG141Jan 26, 2017
SOS11Oct 19, 2017
SRD5A24Sep 26, 2017
SRY1Feb 3, 2017
STK113Aug 24, 2016
THRB2Mar 28, 2018
TRPM62Mar 21, 2017
UBE3A1Jan 26, 2017
VPS33B1Jan 26, 2017

Condition

NameSubmissionsLast Updated
2-methyl-3-hydroxybutyric aciduria1Aug 9, 2016
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency4Sep 26, 2017
46,XY sex reversal, type 11Feb 3, 2017
46,XY sex reversal, type 31Oct 11, 2016
46,XY sex reversal, type 41Feb 28, 2017
46,XY sex reversal, type 51Jan 3, 2017
46,XY sex reversal, type 61Nov 8, 2016
46,XY sex reversal, type 71Sep 13, 2016
Adrenal insufficiency, congenital, with 46,XY sex reversal, partial or complete2Mar 30, 2017
Adrenoleukodystrophy1Dec 19, 2017
Androgen resistance syndrome1Nov 8, 2016
Angelman syndrome1Jan 26, 2017
Arthrogryposis renal dysfunction cholestasis syndrome1Jan 26, 2017
Bardet-Biedl syndrome 71Dec 27, 2016
Bardet-Biedl syndrome 91Sep 13, 2016
Borjeson-Forssman-Lehmann syndrome1Jan 3, 2017
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency2Jan 27, 2017
Congenital adrenal hypoplasia, X-linked1Apr 5, 2017
Culler-Jones syndrome1Oct 18, 2017
Deficiency of acetyl-CoA acetyltransferase1Jul 18, 2016
Diabetes mellitus type 11Nov 8, 2016
Diabetes mellitus type 23Dec 20, 2017
Dystonia 101Apr 17, 2018
Familial hypokalemia-hypomagnesemia1Oct 11, 2016
Glucocorticoid deficiency with achalasia1Apr 26, 2017
Glutaric aciduria, type 11Jun 7, 2016
Holocarboxylase synthetase deficiency1Jun 18, 2017
Hypomagnesemia 1, intestinal2Mar 21, 2017
Hypospadias 2, X-linked1Aug 8, 2017
Joubert syndrome 171Jan 3, 2017
Kabuki syndrome 14Sep 24, 2017
Kallmann syndrome 14Apr 27, 2017
Kallmann syndrome 21Dec 25, 2017
Kallmann syndrome 31Oct 11, 2016
Kallmann syndrome 52Jul 4, 2017
Knobloch syndrome 12Mar 21, 2017
Leigh syndrome1Nov 23, 2016
Maturity-onset diabetes of the young, type 21Jun 7, 2016
Maturity-onset diabetes of the young, type 131Dec 20, 2017
Mental retardation and microcephaly with pontine and cerebellar hypoplasia1Aug 21, 2017
Mitochondrial complex I deficiency1Nov 23, 2016
Multiple epiphyseal dysplasia 12Sep 25, 2017
Myhre syndrome1Sep 24, 2017
Myopathy, Central Core1Sep 24, 2017
Neonatal intrahepatic cholestasis caused by citrin deficiency6Jul 18, 2016
Nephrolithiasis/osteoporosis, hypophosphatemic, 11Aug 21, 2017
Neurofibromatosis, type 11Apr 19, 2018
Noonan syndrome 41Oct 19, 2017
Ornithine carbamoyltransferase deficiency2Jun 7, 2016
Orofaciodigital syndrome 61Jan 3, 2017
Osteochondritis dissecans1Oct 19, 2017
Osteogenesis imperfecta type I1Dec 25, 2017
Osteogenesis imperfecta, recessive perinatal lethal1Jul 26, 2018
Peutz-Jeghers syndrome3Aug 24, 2016
Propionyl-CoA carboxylase deficiency1Feb 24, 2014
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome2Sep 25, 2017
Renal carnitine transport defect2May 26, 2016
Rubinstein-Taybi syndrome 11Nov 12, 2016
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis1Nov 8, 2016
Short stature, optic nerve atrophy, and Pelger-Huet anomaly2Jul 12, 2017
Smith-Magenis syndrome1Jan 3, 2017
Spastic ataxia Charlevoix-Saguenay type2Apr 17, 2018
Spondyloepiphyseal dysplasia, kimberley type1Oct 19, 2017
Thyroid hormone resistance, generalized, autosomal dominant2Mar 28, 2018
Vitamin D-dependent rickets, type 11Oct 24, 2016
Weill-Marchesani syndrome 11Nov 22, 2016
Wiedemann-Steiner syndrome1Sep 26, 2017
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